Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta. | 25958000 | 2015 |
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0.700 | GeneticVariation | UNIPROT | Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. | 18996919 | 2009 |
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0.700 | GeneticVariation | UNIPROT | Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. | 8786074 | 1996 |
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0.700 | GeneticVariation | UNIPROT | Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. | 7520724 | 1994 |
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0.700 | GeneticVariation | UNIPROT | Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. | 8364588 | 1993 |
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0.700 | GeneticVariation | UNIPROT | SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. | 8100209 | 1993 |
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0.700 | GeneticVariation | UNIPROT | An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. | 7691343 | 1993 |
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0.700 | GeneticVariation | UNIPROT | A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase. | 1460047 | 1992 |
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0.700 | GeneticVariation | UNIPROT | The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. | 1613761 | 1992 |
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0.700 | GeneticVariation | UNIPROT | A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. | 1939261 | 1991 |
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0.700 | GeneticVariation | UNIPROT | A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. | 2035536 | 1991 |
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0.700 | GeneticVariation | UNIPROT | Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. | 2037280 | 1991 |
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0.700 | GeneticVariation | UNIPROT | Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. | 1874719 | 1991 |
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0.700 | GeneticVariation | UNIPROT | Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion. | 2211725 | 1990 |
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0.700 | GeneticVariation | UNIPROT | Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. | 2339700 | 1990 |
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0.700 | GeneticVariation | UNIPROT | Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks. | 2116413 | 1990 |
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0.700 | GeneticVariation | UNIPROT | Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. | 3403550 | 1988 |
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0.700 | GeneticVariation | UNIPROT | Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. | 3108247 | 1987 |
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0.700 | GeneticVariation | UNIPROT | A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. | 3667599 | 1987 |
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0.700 | GeneticVariation | UNIPROT | Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. | 3016737 | 1986 |